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FLASH GENE

Symbol

CYP46A1

contributors: shn - updated : 14-06-2010

HGNC name	cytochrome P450, family 46, subfamily A, polypeptide 1
HGNC id	2641

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to Alzheimer disease rs754203 polymorphism is associated to primary open-angle glaucoma

Variant & Polymorphism SNP	rs754203 polymorphism increasing the risk of Alzheimer's disease in a Chinese population

Candidate gene	candidate for retinal pathologies like age-related macular degeneration or glaucomas
Marker
Therapy target

ANIMAL & CELL MODELS

Cyp46a1-/- mice display unchanged hepatic cholesterol and bile acid metabolism parameters while the synthesis of new cholesterol is reduced by 40% in the brain